G. Fuller

Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation

N. Chelaghma, J. Rajkanna, J. Trotman, 2018, Endocrinology, diabetes & metabolism case reports.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort

S. Wilcox, Soo-Mi Park, R. Casey, 2020, Clinical endocrinology.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

R. Sandford, S. Abbs, P. Alexander, 2018, European Journal of Human Genetics.